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Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report.

Abstract

Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (DUOX2) and thyroid stimulating hormone receptor (TSHR). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified.

Authors+Show Affiliations

Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland.Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Basel, Switzerland.Department of Medical Genetics, University Hospital Basel, University of Basel, Basel, Switzerland.Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. Children's Research Centre, University Children's Hospital, Zurich, Switzerland.Department of Paediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31541602

Citation

Sasivari, Zerin, et al. "Double Variants in TSHR and DUOX2 in a Patient With Hypothyroidism: Case Report." Journal of Pediatric Endocrinology & Metabolism : JPEM, 2019.
Sasivari Z, Szinnai G, Seebauer B, et al. Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. J Pediatr Endocrinol Metab. 2019.
Sasivari, Z., Szinnai, G., Seebauer, B., Konrad, D., & Lang-Muritano, M. (2019). Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. Journal of Pediatric Endocrinology & Metabolism : JPEM, doi:10.1515/jpem-2019-0051.
Sasivari Z, et al. Double Variants in TSHR and DUOX2 in a Patient With Hypothyroidism: Case Report. J Pediatr Endocrinol Metab. 2019 Sep 21; PubMed PMID: 31541602.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. AU - Sasivari,Zerin, AU - Szinnai,Gabor, AU - Seebauer,Britta, AU - Konrad,Daniel, AU - Lang-Muritano,Mariarosaria, Y1 - 2019/09/21/ PY - 2019/02/27/received PY - 2019/08/12/accepted PY - 2019/9/22/pubmed PY - 2019/9/22/medline PY - 2019/9/22/entrez KW - DUOX2 variant KW - TSHR variant KW - congenital hypothyroidism JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. N2 - Thyroid dyshormonogenesis (TDH) is characterized by the defective synthesis of thyroid hormones. We present a patient with congenital hypothyroidism (CH) who presented in newborn screening with elevated serum thyroid-stimulating hormone (TSH), decreased free thyroxine (fT4) and increased thyroglobulin (Tg) concentrations. Ultrasound scan revealed a properly structured thyroid gland. Treatment with L-thyroxine was initiated. At the age of 2 years, thyroxine replacement was stopped. The patient remained untreated until 6 years of age when TSH levels progressively increased and L-thyroxine treatment was restarted at a dose of 12.5 μg/day. Genetic analysis revealed a double heterozygosity for likely pathogenic variants of dual oxidase 2 (DUOX2) and thyroid stimulating hormone receptor (TSHR). Both genes were earlier shown to be associated with CH. In a literature review, our patient was compared to previously published patients with similar clinical characteristics, and a good genotype-phenotype correlation was identified. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/31541602/Double_variants_in_TSHR_and_DUOX2_in_a_patient_with_hypothyroidism:_case_report L2 - https://www.degruyter.com/doi/10.1515/jpem-2019-0051 DB - PRIME DP - Unbound Medicine ER -